Conditions / Syndrome
Joubert syndrome 32
info · Syndrome
A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24.
Signs and symptoms
- Mild intellectual disability
- Global developmental delay
- Ataxia
- Depressed nasal bridge
- Hypertelorism
- Oculomotor apraxia
- Molar tooth sign on MRI
- Frontal bossing
- Tall stature
- Postaxial hand polydactyly